Incidental Mutation 'IGL02989:Fancg'
ID406869
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fancg
Ensembl Gene ENSMUSG00000028453
Gene NameFanconi anemia, complementation group G
SynonymsXrcc9
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.329) question?
Stock #IGL02989
Quality Score
Status
Chromosome4
Chromosomal Location43002343-43010506 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 43007121 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030165]
Predicted Effect probably benign
Transcript: ENSMUST00000030165
SMART Domains Protein: ENSMUSP00000030165
Gene: ENSMUSG00000028453

DomainStartEndE-ValueType
low complexity region 51 74 N/A INTRINSIC
low complexity region 131 144 N/A INTRINSIC
low complexity region 164 179 N/A INTRINSIC
low complexity region 190 199 N/A INTRINSIC
Pfam:TPR_1 251 280 4.1e-6 PFAM
Pfam:TPR_2 251 281 7.3e-5 PFAM
Pfam:TPR_8 251 281 4.5e-3 PFAM
low complexity region 302 317 N/A INTRINSIC
low complexity region 401 418 N/A INTRINSIC
Blast:TPR 458 491 4e-9 BLAST
Blast:TPR 518 550 2e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125570
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148018
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008]
PHENOTYPE: Females and males homozygous for targeted null mutations exhibit hypogonadism and reduced fertility. Cytogeneic analysis showed somatic chromosome aberrations occur at a higher spontaneous rate and are easier to induce than in normal cells. Cells are also more sensitive to mitomycin C. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 T A 19: 20,640,058 probably benign Het
Arhgap15 A G 2: 43,780,736 D44G probably damaging Het
Arhgap35 A T 7: 16,497,655 *1500R probably null Het
Arid1b A G 17: 5,335,047 Y1413C probably damaging Het
Atf6 A G 1: 170,788,683 probably benign Het
BC030867 A G 11: 102,255,299 I134V probably benign Het
Cant1 T C 11: 118,411,212 Y93C probably damaging Het
Cat A G 2: 103,472,973 F153S probably damaging Het
Ccdc187 G A 2: 26,276,431 R712W possibly damaging Het
Clpb T C 7: 101,779,220 S396P probably damaging Het
Cntnap5a A G 1: 116,412,083 probably benign Het
Dap3 G A 3: 88,930,571 probably benign Het
Dnah6 T A 6: 73,069,420 D3195V probably damaging Het
Eprs T G 1: 185,418,366 F1355C probably benign Het
Faim2 A G 15: 99,520,362 probably benign Het
Fam208b A T 13: 3,584,820 H662Q probably benign Het
Fbxo42 T A 4: 141,199,534 I375N probably damaging Het
Gabrr3 A T 16: 59,448,008 D328V probably damaging Het
Gm5849 T A 3: 90,777,800 D26V probably damaging Het
Gm6563 T C 19: 23,675,870 L8P possibly damaging Het
Gpld1 A G 13: 24,990,036 N815D possibly damaging Het
Idh2 T A 7: 80,099,108 I142F probably damaging Het
Kcnh7 A C 2: 62,721,925 N907K probably benign Het
Mcm3ap A G 10: 76,471,060 T336A possibly damaging Het
Olfr1211 A T 2: 88,929,704 S204T possibly damaging Het
Olfr1469 C A 19: 13,411,486 Q306K probably benign Het
Olfr556 T C 7: 102,670,444 S175P possibly damaging Het
Pilrb1 C A 5: 137,857,230 R133L possibly damaging Het
Pitpnm3 C A 11: 72,120,186 probably benign Het
Prkdc C T 16: 15,800,016 T3237I possibly damaging Het
Pspc1 A G 14: 56,771,696 probably benign Het
Rasgrp4 G A 7: 29,148,406 E414K probably damaging Het
Rgs12 T A 5: 34,965,119 L82Q probably damaging Het
Sh3gl3 T C 7: 82,273,879 V117A probably benign Het
Shisa5 G A 9: 109,055,994 A112T probably damaging Het
Tedc1 A G 12: 113,163,321 E401G probably benign Het
Tsc22d1 T C 14: 76,418,901 M940T probably benign Het
Vmn1r129 A T 7: 21,360,738 V185E probably damaging Het
Zfp982 C A 4: 147,512,595 D136E possibly damaging Het
Other mutations in Fancg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Fancg APN 4 43003910 nonsense probably null
IGL02072:Fancg APN 4 43007062 missense probably benign 0.00
IGL02184:Fancg APN 4 43006872 missense possibly damaging 0.79
R0671:Fancg UTSW 4 43002998 missense probably benign 0.00
R1581:Fancg UTSW 4 43007039 missense probably damaging 1.00
R1853:Fancg UTSW 4 43009727 missense probably benign 0.00
R2046:Fancg UTSW 4 43004604 missense probably damaging 1.00
R2519:Fancg UTSW 4 43008787 missense probably damaging 1.00
R4282:Fancg UTSW 4 43003830 missense probably damaging 1.00
R4397:Fancg UTSW 4 43008897 missense probably benign 0.02
R4583:Fancg UTSW 4 43002991 missense probably benign
R4671:Fancg UTSW 4 43005272 missense probably benign 0.01
R4887:Fancg UTSW 4 43006866 missense probably benign 0.18
R5309:Fancg UTSW 4 43003019 missense probably benign 0.23
R5312:Fancg UTSW 4 43003019 missense probably benign 0.23
R5325:Fancg UTSW 4 43006564 missense probably damaging 0.99
R5379:Fancg UTSW 4 43002998 missense probably benign 0.00
R5386:Fancg UTSW 4 43007076 nonsense probably null
R5649:Fancg UTSW 4 43008736 missense probably damaging 1.00
R5788:Fancg UTSW 4 43007130 intron probably benign
R5802:Fancg UTSW 4 43006582 missense probably benign
R6217:Fancg UTSW 4 43010084 missense probably benign 0.03
R6698:Fancg UTSW 4 43007034 missense probably benign 0.00
R7092:Fancg UTSW 4 43004831 missense probably benign 0.03
Posted On2016-08-02